MCID: PRL047
MIFTS: 34

Prolonged Electroretinal Response Suppression

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Prolonged Electroretinal Response Suppression

MalaCards integrated aliases for Prolonged Electroretinal Response Suppression:

Name: Prolonged Electroretinal Response Suppression 57 12 53 25 59 75 44 40
Bradyopsia 57 12 53 25 59 75 37 29 13 6 15
Perrs 57 53 25 59 75

Characteristics:

Orphanet epidemiological data:

59
bradyopsia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 608415
Disease Ontology 12 DOID:0050335
MeSH 44 C564243
SNOMED-CT 68 711163009
Orphanet 59 ORPHA75374
ICD10 via Orphanet 34 H53.8
MedGen 42 C1842073
KEGG 37 H00973
UMLS 73 C1842073

Summaries for Prolonged Electroretinal Response Suppression

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 75374Disease definitionBradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia.EpidemiologyIt has been described in five unrelated patients with symptoms present since childhood.EtiologyThe disorder is caused by recessive mutations in the RGS9 (chromosome 17q23-q24) or R9AP (chromosome 19q13.11) genes.Visit the Orphanet disease page for more resources.

MalaCards based summary : Prolonged Electroretinal Response Suppression, also known as bradyopsia, is related to cone-rod dystrophy 6 and eye degenerative disease. An important gene associated with Prolonged Electroretinal Response Suppression is RGS9 (Regulator Of G Protein Signaling 9), and among its related pathways/superpathways are Phototransduction and Metabolism of fat-soluble vitamins. Affiliated tissues include eye, and related phenotypes are visual impairment and photophobia

Disease Ontology : 12 A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions; can have material basis in mutations in the RGS9 or the R9AP genes.

Genetics Home Reference : 25 Bradyopsia is a rare condition that affects vision. The term "bradyopsia" is from the Greek words for slow vision. In affected individuals, the eyes adapt more slowly than usual to changing light conditions. For example, people with this condition are blinded for several seconds when going from a dark environment into a bright one, such as when walking out of a darkened movie theater into daylight. Their eyes also have trouble adapting from bright light to dark conditions, such as when driving into a dark tunnel on a sunny day.

UniProtKB/Swiss-Prot : 75 Prolonged electroretinal response suppression: Characterized by difficulty adjusting to sudden changes in luminance levels mediated by cones.

Description from OMIM: 608415

Related Diseases for Prolonged Electroretinal Response Suppression

Diseases related to Prolonged Electroretinal Response Suppression via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 6 10.4 GUCY2D RDH5
2 eye degenerative disease 10.3 GUCY2D PRPH2
3 choroidal dystrophy, central areolar, 1 10.2 GUCY2D PRPH2
4 retinitis 10.1
5 leber congenital amaurosis 4 10.1 CRX GUCY2D
6 enhanced s-cone syndrome 9.9 CRX RGS9BP
7 stargardt macular degeneration 9.9 ABCA4 PRPH2
8 occult macular dystrophy 9.9 ABCA4 KCNV2
9 scotoma 9.9 ABCA4 RDH5
10 retinoschisis 1, x-linked, juvenile 9.8 CRB1 CRX
11 hereditary choroidal atrophy 9.8 GUCY2D PROM1 PRPH2
12 partial central choroid dystrophy 9.8 GUCY2D PROM1 PRPH2
13 fundus albipunctatus 9.7 PRPH2 RDH5
14 macular dystrophy, concentric annular 9.7 ABCA4 CRX
15 leber congenital amaurosis 9 9.7 CRB1 CRX GUCY2D
16 achromatopsia 3 9.7 CRB1 CRX GUCY2D
17 yemenite deaf-blind hypopigmentation syndrome 9.6 ABCA4 GUCY2D
18 keratoconus 9.6 CRB1 CRX GUCY2D
19 stargardt disease 1 9.5 ABCA4 CRX
20 macular degeneration, age-related, 1 9.1 ABCA4 CRB1 PRPH2
21 stargardt disease 8.8 ABCA4 CRB1 PROM1 PRPH2
22 retinal degeneration 8.3 ABCA4 CRB1 CRX GUCY2D PRPH2
23 leber congenital amaurosis 8.3 ABCA4 CRB1 CRX GUCY2D PRPH2
24 retinal disease 7.9 ABCA4 CRB1 CRX GUCY2D PRPH2 RDH5
25 cone-rod dystrophy 2 7.0 ABCA4 CDHR1 CRB1 CRX GUCY2D KCNV2
26 fundus dystrophy 6.6 ABCA4 CDHR1 CRB1 CRX GUCY2D KCNV2
27 retinitis pigmentosa 6.6 ABCA4 CDHR1 CRB1 CRX GUCY2D PROM1

Graphical network of the top 20 diseases related to Prolonged Electroretinal Response Suppression:



Diseases related to Prolonged Electroretinal Response Suppression

Symptoms & Phenotypes for Prolonged Electroretinal Response Suppression

Clinical features from OMIM:

608415

Human phenotypes related to Prolonged Electroretinal Response Suppression:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
2 photophobia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000613
3 bradyopsia 32 HP:0030511

MGI Mouse Phenotypes related to Prolonged Electroretinal Response Suppression:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.76 ABCA4 CRB1 CRX GNB5 GUCY2D PROM1
2 pigmentation MP:0001186 9.43 ABCA4 CRB1 CRX GNB5 PROM1 PRPH2
3 vision/eye MP:0005391 9.36 ABCA4 CDHR1 CRB1 CRX GNB5 GUCY2D

Drugs & Therapeutics for Prolonged Electroretinal Response Suppression

Search Clinical Trials , NIH Clinical Center for Prolonged Electroretinal Response Suppression

Cochrane evidence based reviews: prolonged electroretinal response suppression

Genetic Tests for Prolonged Electroretinal Response Suppression

Genetic tests related to Prolonged Electroretinal Response Suppression:

# Genetic test Affiliating Genes
1 Bradyopsia 29 RGS9 RGS9BP

Anatomical Context for Prolonged Electroretinal Response Suppression

MalaCards organs/tissues related to Prolonged Electroretinal Response Suppression:

41
Eye

Publications for Prolonged Electroretinal Response Suppression

Variations for Prolonged Electroretinal Response Suppression

UniProtKB/Swiss-Prot genetic disease variations for Prolonged Electroretinal Response Suppression:

75
# Symbol AA change Variation ID SNP ID
1 RGS9 p.Trp299Arg VAR_017912 rs121908449

ClinVar genetic disease variations for Prolonged Electroretinal Response Suppression:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RGS9BP R9AP, 1-BP INS, 194C insertion Pathogenic
2 RGS9 NM_003835.3(RGS9): c.895T> C (p.Trp299Arg) single nucleotide variant Pathogenic rs121908449 GRCh37 Chromosome 17, 63193278: 63193278
3 RGS9 NM_003835.3(RGS9): c.895T> C (p.Trp299Arg) single nucleotide variant Pathogenic rs121908449 GRCh38 Chromosome 17, 65197160: 65197160
4 RGS9BP NM_207391.2(RGS9BP): c.365C> G (p.Ser122Cys) single nucleotide variant Likely pathogenic rs749927570 GRCh37 Chromosome 19, 33167534: 33167534
5 RGS9BP NM_207391.2(RGS9BP): c.365C> G (p.Ser122Cys) single nucleotide variant Likely pathogenic rs749927570 GRCh38 Chromosome 19, 32676628: 32676628

Expression for Prolonged Electroretinal Response Suppression

Search GEO for disease gene expression data for Prolonged Electroretinal Response Suppression.

Pathways for Prolonged Electroretinal Response Suppression

Pathways related to Prolonged Electroretinal Response Suppression according to KEGG:

37
# Name Kegg Source Accession
1 Phototransduction hsa04744

GO Terms for Prolonged Electroretinal Response Suppression

Cellular components related to Prolonged Electroretinal Response Suppression according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor inner segment GO:0001917 9.33 CRB1 GNB5 RGS9
2 photoreceptor outer segment membrane GO:0042622 9.32 CDHR1 PROM1
3 photoreceptor disc membrane GO:0097381 9.13 ABCA4 GUCY2D RGS9
4 photoreceptor outer segment GO:0001750 9.02 ABCA4 GNB5 PROM1 PRPH2 RGS9BP
5 membrane GO:0016020 10.03 ABCA4 CD177 CDHR1 CRB1 GNB5 GUCY2D

Biological processes related to Prolonged Electroretinal Response Suppression according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.43 ABCA4 CRX GUCY2D RDH5 RGS9 RGS9BP
2 photoreceptor cell maintenance GO:0045494 9.33 ABCA4 CDHR1 PROM1
3 dopamine receptor signaling pathway GO:0007212 9.26 GNB5 RGS9
4 visual perception GO:0007601 9.17 ABCA4 CRX GUCY2D PRPH2 RDH5 RGS9

Sources for Prolonged Electroretinal Response Suppression

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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